Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Primary microcephaly of postnatal onset is a feature of many neurological disorders, mostly associated with mental retardation, seizures, and spasticity, and it typically carries a grave prognosis. Five infants from four unrelated families of Caucasus Jewish origin presented soon after birth with sp...

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Detalhes bibliográficos
Main Authors: Kaufmann, Rami, Straussberg, Rachel, Mandel, Hanna, Fattal-Valevski, Aviva, Ben-Zeev, Bruria, Naamati, Adi, Shaag, Avraham, Zenvirt, Shamir, Konen, Osnat, Mimouni-Bloch, Aviva, Dobyns, William B., Edvardson, Simon, Pines, Ophry, Elpeleg, Orly
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2978946/
https://ncbi.nlm.nih.gov/pubmed/20950787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.09.016
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